Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20948 | 63067;63068;63069 | chr2:178588883;178588882;178588881 | chr2:179453610;179453609;179453608 |
| N2AB | 19307 | 58144;58145;58146 | chr2:178588883;178588882;178588881 | chr2:179453610;179453609;179453608 |
| N2A | 18380 | 55363;55364;55365 | chr2:178588883;178588882;178588881 | chr2:179453610;179453609;179453608 |
| N2B | 11883 | 35872;35873;35874 | chr2:178588883;178588882;178588881 | chr2:179453610;179453609;179453608 |
| Novex-1 | 12008 | 36247;36248;36249 | chr2:178588883;178588882;178588881 | chr2:179453610;179453609;179453608 |
| Novex-2 | 12075 | 36448;36449;36450 | chr2:178588883;178588882;178588881 | chr2:179453610;179453609;179453608 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1203416439  |
-0.565 | 1.0 | N | 0.823 | 0.423 | 0.711200643742 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| P/L | rs1203416439 |
-0.565 | 1.0 | N | 0.823 | 0.423 | 0.711200643742 | gnomAD-4.0.0 | 1.77949E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.33891E-05 | 0 | 0 |
| P/S | None | None | 1.0 | N | 0.815 | 0.392 | 0.393471546983 | gnomAD-4.0.0 | 6.84434E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15955E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0954 | likely_benign | 0.0953 | benign | -1.407 | Destabilizing | 1.0 | D | 0.774 | deleterious | N | 0.514595922 | None | None | N |
| P/C | 0.5715 | likely_pathogenic | 0.5457 | ambiguous | -0.869 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/D | 0.4776 | ambiguous | 0.4072 | ambiguous | -1.264 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/E | 0.2767 | likely_benign | 0.2344 | benign | -1.315 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| P/F | 0.4182 | ambiguous | 0.3866 | ambiguous | -1.199 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/G | 0.4521 | ambiguous | 0.424 | ambiguous | -1.656 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| P/H | 0.2803 | likely_benign | 0.2517 | benign | -1.108 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.487021185 | None | None | N |
| P/I | 0.197 | likely_benign | 0.1962 | benign | -0.843 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/K | 0.4058 | ambiguous | 0.3312 | benign | -1.117 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/L | 0.1035 | likely_benign | 0.1009 | benign | -0.843 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.520657889 | None | None | N |
| P/M | 0.2314 | likely_benign | 0.2248 | benign | -0.619 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| P/N | 0.3515 | ambiguous | 0.3333 | benign | -0.842 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/Q | 0.1832 | likely_benign | 0.1675 | benign | -1.113 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/R | 0.3472 | ambiguous | 0.2783 | benign | -0.492 | Destabilizing | 1.0 | D | 0.868 | deleterious | N | 0.513326485 | None | None | N |
| P/S | 0.1609 | likely_benign | 0.1546 | benign | -1.289 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.471372466 | None | None | N |
| P/T | 0.1332 | likely_benign | 0.1303 | benign | -1.249 | Destabilizing | 1.0 | D | 0.816 | deleterious | N | 0.469891208 | None | None | N |
| P/V | 0.154 | likely_benign | 0.1498 | benign | -0.997 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/W | 0.7238 | likely_pathogenic | 0.6567 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| P/Y | 0.4665 | ambiguous | 0.4089 | ambiguous | -1.042 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.